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NCI CANCERLIT® Search: Tuberous Sclerosis - January 2002
National Cancer Institute®
Ultima Vez Modificado: 1 de enero del 2002
Table of Contents
1
UI - 11564212
AU - Maruyama H; Ohbayashi C; Hino O; Tsutsumi M; Konishi Y
TI -
Pathogenesis of multifocal micronodular pneumocyte hyperplasia and
lymphangioleiomyomatosis in tuberous sclerosis and association with
tuberous sclerosis genes TSC1 and TSC2.
SO - Pathol Int 2001 Aug;51(8):585-94
AD - Department of Pathology, Hoshigaoka Koseinenkin Hospital, 8-1, 4-chome
Hoshigaoka, Hirakata, Osaka 573-8511, Japan. hiromaruyama@sannet.ne.jp
Tuberous sclerosis (TSC) is a rare, genetically determined disorder /
familial tumor syndrome, currently diagnosed using specific clinical
criteria proposed by Gomez, including the presence of multiorgan
hamartomas. Pulmonary involvement in TSC is well known as pulmonary
lymphangioleiomyomatosis (LAM), which has an incidence of 1-2.3% in TSC
patients. LAM has immunohistochemical expression of both smooth-muscle
actin and a monoclonal antibody specific for human melanoma, HMB-45. It
has recently been reported that multifocal micronodular pneumocyte
hyperplasia (MMPH) associated with TSC should be considered as a
distinct type of lung lesion, whether it occurs with or without LAM. Two
predisposing genes have been found in families affected by TSC;
approximately half of the families show linkage to TSC1 at 9q34.3, and
the other half show linkage to TSC2 at 16p13.3. TSC genes are considered
to be tumor suppressor genes, and mutations in them may lead to abnormal
differentiation and proliferation of cells. Tuberin, the TSC2 gene
product, has recently been found to be expressed in LAM and MMPH. In
this article we discuss the histogenesis and genetic abnormalities of
neoplastic lesions associated with TSC, and we review the current
understanding of the pathogenesis of pulmonary hamartomatous lesions
such as LAM and MMPH in TSC.
2
UI - 11579436
AU - Guerrini R; Carrozzo R
TI -
Epilepsy and genetic malformations of the cerebral cortex.
SO - Am J Med Genet 2001 Summer;106(2):160-73
AD - Pediatric Neurology, Institute of CHild Health and Great Ormond Street
Hospital for Children, University College of London, UK.
R.Guerrini@ich.ucl.ac.uk
Malformations of the cerebral cortex are an important cause of
developmental disabilities and epilepsy. Here we review those
malformations for which a genetic basis has been elucidated or is
suspected and the types of associated epilepsy. Schizencephaly (cleft
brain) has a wide anatomo-clinical spectrum, including partial epilepsy
in most patients. Familial occurrence is rare. Heterozygous mutations in
the EMX2 gene were reported in 13 patients. X-linked bilateral
periventricular nodular heterotopia (BPNH) consists of typical BPNH with
epilepsy in females and prenatal lethality in males. About 88% of
patients have partial epilepsy. Filamin A mutations, all leading to a
truncated protein, have been reported in three families and in sporadic
patients. The most frequent forms of lissencephaly (agyria-pachygyria)
are caused by mutations of LIS1. XLIS mutations cause classical
lissencephaly in hemizygous males and subcortical band heterotopia (SBH)
in heterozygous females. The thickness of the heterotopic band and the
degree of pachygyria correlate with the likelihood of developing
Lennox-Gastaut syndrome. Mutations of the coding region of XLIS were
found in all reported pedigrees and in 38-91% of sporadic female
patients with SBH. With few exceptions, children with LIS1 mutations
have isolated lissencephaly, with severe developmental delay and
infantile spasms. Autosomal recessive lissencephaly with cerebellar
hypoplasia, accompanied by severe developmental delay, seizures, and
hypotonia has been associated with mutations of the reelin gene.
Fukuyama congenital muscular dystrophy is due to mutations of the
fukutin gene and is accompanied by polymicrogyria. Febrile seizures and
epilepsy with generalized tonic-convulsions appear in about 50% of
children but are usually not severe. Tuberous sclerosis (TS) is caused
by mutations in at least two genes, TSC1 and TSC2; 75% of cases are
sporadic; 60% of patients have epilepsy, manifested in 50% of them as
infantile spasms. TSC1 mutations seem to cause a milder disease with
fewer cortical tubers and lower frequency of seizures. Among several
syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria
had familial occurrence on several occasions. Genetic heterogeneity is
likely, including autosomal recessive, X-linked dominant, X-linked
recessive inheritance, and association with 22q11.2 deletions. About 65%
of patients have severe epilepsy, often Lennox-Gastaut syndrome.
Copyright 2001 Wiley-Liss, Inc.
3
UI - 11579194
AU - Lewis JC; Tomkins S; Sampson JR
TI -
Ethical approval for research involving geographically dispersed
subjects: unsuitability of the UK MREC/LREC system and relevance to
uncommon genetic disorders.
SO - J Med Ethics 2001 Oct;27(5):347-51
AD - Institute of Medical Genetics, University of Wales College of Medicine,
Heath Park, Cardiff, Wales, UK.
OBJECTIVES: To assess the process involved in obtaining ethical approval
for a single-centre study involving geographically dispersed subjects
with an uncommon genetic disorder. DESIGN: Observational data of the
application process to 53 local research ethics committees (LRECs)
throughout Wales, England and Scotland. The Multicentre Research Ethics
Committee (MREC) for Wales had already granted approval. RESULTS:
Application to the 53 LRECs required 24,552 sheets of paper and took two
months of the researcher's time. The median time taken for approval was
39 days with only seven (13%) of committees responding within the
recommended 21 days. In at least nineteen cases (36%) a subcommittee
considered the application. Thirty-three committees (62%) accepted the
proposal without amendments but, of the remainder, four (8%) requested
changes outside of the remit of LRECs. DISCUSSION: Difficulties still
exist with the system for obtaining ethical approval for studies
involving a single centre but with patients at multiple sites, as is
often required for genetic observational research. As such studies
differ from true multicentre studies, it may be advantageous to develop
a separate and specific process of application to ensure that resources
are not unnecessarily expended in the quest for ethical approval.
4
UI - 11583980
AU - Kyin R; Hua Y; Baybis M; Scheithauer B; Kolson D; Uhlmann E; Gutmann D;
TI -
Crino PB
Differential cellular expression of neurotrophins in cortical tubers of
the tuberous sclerosis complex.
SO - Am J Pathol 2001 Oct;159(4):1541-54
AD - Department of Neurology, Penn Epilepsy Center, University of
Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
Neurotrophins and their receptors modulate cerebral cortical
development. Tubers in the tuberous sclerosis complex (TSC) are
characterized histologically by disorganized cortical cytoarchitecture
and thus, we hypothesized that expression of neurotrophin mRNAs and
proteins might be altered in tubers. Using in situ transcription and
mRNA amplification to probe cDNA arrays, we found that neurotrophin-3
(NT3) and trkB mRNA expression were reduced whereas neurotrophin-4 (NT4)
and trkC mRNA expression were increased in whole tuber sections.
Alterations in mRNA abundance were defined in single microdissected
dysplastic neurons (DNs) and giant cells (GCs). NT3 mRNA expression was
reduced in GCs and trkB mRNA expression was reduced in DNs. NT4 mRNA
expression was increased in DNs and trkC mRNA expression was increased
in both DNs and GCs. In three patients, TSC2 locus mutations were
confirmed and the mean tuberin mRNA expression levels was reduced across
all nine cases. Consistent with these observations, NT3 mRNA expression
was reduced but trkC mRNA expression was increased in vitro in human
NTera2 neurons (NT2N) transfected with a tuberin antisense construct
that reduced tuberin expression. Western analysis of tuber homogenates
and computer-assisted densitometry of immunolabeled sections confirmed
the neurotrophin mRNA expression data in whole sections and single
neurotrophin immunoreactive cells. We conclude that alterations in
NT4/trkB and NT3/trkC expression may contribute to tuber formation
during brain development as downstream effects of the hamartin and
tuberin pathway in TSC.
5
UI - 11675974
AU - Verhoef S; Lindhout D; Halley DJ; van den Ouweland AM
TI -
[From gene to disease; TSC1 and TSC2 genes and tuberous sclerosis
complex]
SO - Ned Tijdschr Geneeskd 2001 Oct 6;145(40):1928-30
AD - Nederlands Kanker Instituut/Antoni van Leeuwenhoek Ziekenhuis,
polikliniek Familiaire Tumoren, Amsterdam.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder
characterised by the presence of multiple hamartomas in different parts
of the body: the skin, central nervous system, retina, heart, and
kidneys. The diagnosis is based on clinical criteria. Screening for TSC
must include investigation of skin, CT-scan of the brain and retinal
examination. Mutations in TSC patients are present in either the TSC1 or
the TSC2 gene. Due to the complexity of the genes and the observation
that almost each family has a unique mutation, DNA analysis is not
suitable for fast diagnosis of the index patient, but may be used for
testing relatives at risk.
6
UI - 11677919
AU - Fitz-Henley M
TI -
Images and diagnoses. Tuberous sclerosis complex.
SO - West Indian Med J 2001 Jun;50(2):164, 173
AD - University of the West Indies, 85 Hope Road, Kingston 6, Jamaica.
7
UI - 11708584
AU - Park RJ; Bolton PF
TI -
Pervasive developmental disorder and obstetric complications in children
and adolescents with tuberous sclerosis.
SO - Autism 2001 Sep;5(3):237-48
AD - The Autism and Related Conditions Research Centre, Department of
Psychiatry, University of Cambridge, UK. rjp42@cam.ac.uk
Children with autism have an increased risk for obstetric complications
but it is not known whether these are of primary aetiological
significance. It is also unclear whether obstetric complications play a
secondary role in shaping phenotypic expression in individuals at
genetic risk for autism. We investigated this question by studying the
role of obstetric complications in determining phenotypic manifestations
in tuberous sclerosis, a single gene disorder frequently associated with
autism spectrum disorders. Obstetric histories of 43 children with
non-familial TS and 40 unaffected siblings were obtained using a
structured parent interview. ADI-R, ADOS-G and IQ evaluations were
undertaken. Children with TS experienced more obstetric complications
than their unaffected siblings, but these were related to mild rather
than severe adversities. No differences in obstetric complications were
found in children with and without autism spectrum disorders and there
was no positive correlation between obstetric adversities and severity
of autism spectrum disorders or intellectual impairments.
8
UI - 11675514
AU - Montagne J; Radimerski T; Thomas G
TI -
Insulin signaling: lessons from the Drosophila tuberous sclerosis
complex, a tumor suppressor.
SO - Sci STKE 2001 Oct 23;2001(105):PE36
AD - Friedrich Miescher Institute for Biomedical Research, Maulbeerstrasse 66
Basel, CH-4058, Switzerland.
The genes that encode the proteins composing the tuberous sclerosis
complex (TSC) are tumor suppressors. Experiments in the model organism
Drosophila melanogaster have provided insight into the identity of these
genes and their functions in regulating cell size and proliferation.
Montagne et al. describe the various genetic interactions that show TSC
to be a regulator of the insulin signaling pathway and a regulator of
progression through the cell cycle, which explains its effects on cell
size and tissue and tumor growth.
9
UI - 2039148
AU - Clark RD
TI -
A cytogenetic abnormality in tuberous sclerosis. Report of an affected
infant with 47,XX, + der22,t(11;22)(q23.3;q11.2)mat.
SO - Ann N Y Acad Sci 1991;615():243-51
AD - Department of Pediatrics, Loma Linda University Medical Center,
California 92350.
10
UI - 2070549
AU - Rott HD; Fahsold R
TI -
Tuberous sclerosis in two sibs of normal parents.
SO - Clin Genet 1991 Apr;39(4):306-8
AD - Institut fur Humangenetik, Universitat Erlangen-Nurnberg, FRG.
We report on a family with two sibs suffering from tuberous sclerosis.
The parents were normal in all clinical tests including Wood's light
examination of the skin, ophthalmoscopy, X-ray computerized tomography
of brain, liver, and kidneys, cardiac echography and MR imaging of the
brain. The most likely explanation is a germinal cell mosaic in one of
the parents. A recurrence risk of 20 to 37% seems appropriate. The
implications for risk assessment of sporadic cases are emphasized.
11
UI - 4237935
AU - Zito M; Vella L; Scialfa G
TI -
[Familial association of tuberous sclerosis and mongolism.
Clinico-genetic contribution]
SO - Acta Neurol (Napoli) 1969 Jan-Feb;24(1):38-48
12
UI - 8110408
AU - Rodriguez-Balderrama I; Cisneros-Garcia N; Gonzalez-Flores R;
TI -
Rodriguez-Bonito R; Quiroga-Garza A; Infante-Cantu JA
[The magnetic resonance imaging of the cerebral lesions in a newborn
infant with tuberous sclerosis]
SO - Bol Med Hosp Infant Mex 1993 Dec;50(12):885-8
AD - Departamento de Pediatria, Hospital Universitario Dr. Jose Eleuterio
Gonzalez, Facultad de Medicina, Universidad Autonoma de Nuevo Leon,
Monterrey, Mexico.
Tuberous sclerosis is a neurocutaneous disease characterized of mental
retardation, facial fibroangiomas, hypochromic stain and seizures. Is
presented a case of a newborn that in the third day of life presenting
seizures and in the physical exam show hypochromic CT scans irregular of
3-10 mm in thorax and limbs. The seizures presented during
hospitalization were tonics, it was need treatment with three
anticonvulsants for the control; the parents studies were normal.
Magnetic resonance showed characteristic images of this pathology like
nodular subependymal lesions, hyperintense, in lateral ventricles and a
cortical tuberous lesion in the right frontal region. Tuberous sclerosis
has a dominant autosomic transmission; the defect is in the chromosome
9, the prenatal diagnosis is not possible and 50-80% the of case are
mutations. Affect a different organs as skin, eyes, heart, brain,
kidney, bone and lung. The prognostic is variable and death is caused
for epileptic state, brain tumor, heart failure, renal or intercurrent
infection. The magnetic resonance imaging is the landmark study for
diagnosis of this pathology of ample use in the present.
13
UI - 6786088
AU - Jennings MT; Bird TD
TI -
Genetic influences in the epilepsies. Review of the literature with
practical implications.
SO - Am J Dis Child 1981 May;135(5):450-7
We review hereditary influences in the epilepsies from the perspective
of medical genetics. The recurrence risk for epilepsy in close relatives
may vary from 2% to 5% up to 50% depending on the etiology of the
seizure disorder in the proband. We emphasize the identification of
specific disorders with single-gene inheritance that will lead to useful
conclusions regarding treatment, prognosis, and family counseling. Also
discussed are chromosomal aberrations, polygenic inheritance,
gene-environment interactions, animal models of epilepsy, and the
pharmacogenetics of anticonvulsants.
14
UI - 7476727
AU - Cohnen M; Weber F; Wagner K; Philipp T
TI -
[Tuberous sclerosis: typical complications of a hereditary disease and
therapeutic options]
SO - Med Klin 1995 Sep 15;90(9):506-12
AD - Abteilung fur Nieren- und Hochdruckkrankheiten, Universitatsklinikum
Essen.
BACKGROUND: Tuberous sclerosis is an autosomal-dominant hereditary
disease (incidence and prevalence 1:10,000) which is characterized by
hamartomas in various organs. PATIENTS AND METHODS: We demonstrate three
patients with different and partly atypical manifestations: All had
facial angiofibroma. No patient was mentally retarded and epilepsy was
observed only intermittently. In all cases periventricular
calcifications were noted and renal angiomyolipomas were found. Two
patients requested dialysis after nephrectomy. One patient suffered from
severe complications of the rare pulmonary lymphangioleiomyomatosis.
RESULTS: Therapy of this multiorgan disease is only symptomatic.
Operations should be considered as second line treatment. In one case,
successful renal transplantation is described. CONCLUSIONS: Genetic
counselling is warranted in this disease with high penetrance,
particularly the broad spectrum of manifestations should be taken into
account.
15
UI - 7484652
AU - Kim H; Kerr A; Morehouse H
TI -
The association between tuberous sclerosis and insulinoma.
SO - AJNR Am J Neuroradiol 1995 Aug;16(7):1543-4
AD - Department of Radiology, Albert Einstein College of Medicine, Bronx, NY,
USA.
We describe a patient with tuberous sclerosis and an insulinoma. The
neurologic abnormalities typically present in patients with tuberous
sclerosis may, in rare cases, be manifestations of hypoglycemia. We
discussed a possible association between tuberous sclerosis and multiple
endocrine neoplasia type I.
16
UI - 8707632
AU - Helling K; Flottmann T; Schmitt-Graff A; Scherer H
TI -
[Manifestation of tuberous sclerosis in the ENT area]
SO - HNO 1996 May;44(5):264-6
AD - Universitats-HNO-Klinik, Klinikum Benjamin Franklin der Freien
Universitat Berlin.
Tuberous sclerosis (Bourneville-Pringle's disease) is a rare, largely
autosomal dominant neurocutaneous disease. The disease can also result
from spontaneous mutations. Although strongly variable in its
manifestation, manifestations are typically characterized by involvement
of the central nervous system (early childhood seizures), skin (facial
angiofibromas) and kidneys (angiomyolipomas). In the case described, a
67-year-old female patient complained exclusively of obstructed nasal
breathing that was found to be due to angiofibromas in the nasal
vestibule. Oral fibromas were asymptomatic, while fibromas in the facial
region resulted in some cosmetic changes. This exclusively ENT
manifestation of a patient with tuberous sclerosis has not been
described previously. As treatment, the fibromas were ablated by an
Nd:YAG laser under local anesthesia. Other therapeutic options are
described. Additional clarification of all organ manifestations is
advisable in view of numerous possible pathologies present. Genetic
consultation is also recommended, particularly for patients with an
oligosymptomatic variant.
17
UI - 9345111
AU - Qian F; Germino GG
TI -
"Mistakes happen": somatic mutation and disease.
SO - Am J Hum Genet 1997 Nov;61(5):1000-5
AD - Department of Medicine, Division of Nephrology, Johns Hopkins University
School of Medicine, Baltimore, MD 21205-2196, USA.
18
UI - 9486713
AU - Argenziano G; Monsurro MR; Pazienza R; Delfino M
TI -
A case of probable autosomal recessive ectodermal dysplasia with
corkscrew hairs and mental retardation in a family with tuberous
sclerosis.
SO - J Am Acad Dermatol 1998 Feb;38(2 Pt 2):344-8
AD - Institute of Dermatology, Federico II University of Naples, Italy.
We describe a woman with a probable autosomal recessive ectodermal
dysplasia with corkscrew hairs and mental retardation in a family with
tuberous sclerosis. Other findings included syndactyly, typical facies,
dental abnormalities, dermatoglyphic hypoplasia, epidermal ridge sweat
pore count slightly below normal, and keratosis pilaris. Clinical
studies and genetic analysis excluded the diagnosis of tuberous
sclerosis in our patient. We conclude that she has ectodermal dysplasia
associated with mental retardation. This association has been described
previously; it suggests the possible interrelationship of a community of
ectodermal dysplasia syndromes with a distinctive structural hair
abnormality (pili torti et canaliculi), variable midfacial
malformations, limb defects, and other features such as mental
retardation. The similarity of our patient to that described by Whiting
et al. and Abramovits-Ackerman et al. suggests the autonomy of this
syndrome.
19
UI - 9874853
AU - Franz DN
TI -
Diagnosis and management of tuberous sclerosis complex.
SO - Semin Pediatr Neurol 1998 Dec;5(4):253-68
AD - Department of Pediatrics, University of Cincinnati College of Medicine,
OH, USA.
Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous
disorder with a high spontaneous mutation rate. Understanding of this
disorder has greatly increased in recent years. Two chromosomal loci can
produce the TSC phenotype: 9q34 and 16p13. These appear to code for
proteins that have a tumor suppressor function. TSC results in
hamartomas that affect various organ systems, most commonly brain, skin,
heart, and kidney. Previously thought to consist of intractable
seizures, facial angiofibromas, and dementia, increasing numbers of
persons with less severe involvement have been identified. Diagnostic
criteria, various types of lesions, and medical management are reviewed.
20
UI - 10416247
AU - Arguelles M; Alvarez-Valiente H; Rubio-Gonzalez T; Hechavarria D; Cuervo
TI -
N
[A clinical study of tuberous sclerosis]
SO - Rev Neurol 1999 May 16-31;28(10):1024-6
21
UI - 10822440
AU - Asano E; Chugani DC; Muzik O; Shen C; Juhasz C; Janisse J; Ager J;
TI -
Canady A; Shah JR; Shah AK; Watson C; Chugani HT
Multimodality imaging for improved detection of epileptogenic foci in
tuberous sclerosis complex.
SO - Neurology 2000 May 23;54(10):1976-84
AD - Department of Pediatrics, Children's Hospital of Michigan and Detroit
Medical Center, Wayne State University School of Medicine, Detroit, MI
48201, USA.
OBJECTIVE: Using interictal alpha-[11C]methyl-l-tryptophan ([11C]AMT)
PET scan, the authors have undertaken a quantitative analysis of all
tubers visible on MRI or 2-deoxy-2-[18F]fluoro-d-glucose ([18F]FDG) PET,
to determine the relationship between [11C]AMT uptake and epileptic
activity on EEG. BACKGROUND: Tuberous sclerosis complex (TSC) is an
autosomal dominant disorder, often associated with cortical tubers and
intractable epilepsy. The authors have shown previously that [11C]AMT
PET scans show high tracer uptake in some epileptogenic tubers and low
uptake in the remaining tubers. METHODS: Eighteen children, age 7 months
to 16 years, were studied. Patients underwent video-EEG monitoring, PET
scans of [11C]AMT and [18F]FDG, and T2-weighted or fluid-attenuated
inversion recovery (FLAIR) MRI. [11C]AMT uptake values were measured in
258 cortical tubers delineated with coregistered MRI or [18F]FDG scans.
Uptake ratios were calculated between the [11C]AMT uptake in tubers and
those for normal cortex (tuber/normal cortex). Using the region of
epileptiform activity, the authors performed receiver operator
characteristics (ROC) analysis and determined the optimal uptake ratio
for detecting presumed epileptogenic tubers. RESULTS: Tuber uptake
ratios ranged from 0.6 to 2.0. Tuber uptake ratios in the epileptic
lobes were higher than those in the nonepileptic lobes (p < 0.0001). All
15 patients with focal seizure activity showed one or more lesions with
uptake ratio above 0.98 in the epileptic lobe. ROC analysis showed that
a tuber uptake ratio of 0.98 resulted in a specificity of 0.91.
CONCLUSIONS: Cortical tubers with [11C]AMT uptake greater than or equal
to normal cortex are significantly related to epileptiform activity in
that lobe. Together, interictal [11C]AMT PET and FLAIR MRI improve the
detection of potentially epileptogenic tubers in patients with TSC being
evaluated for epilepsy surgery.
22
UI - 11704609
AU - Yu J; Astrinidis A; Henske EP
TI -
Chromosome 16 loss of heterozygosity in tuberous sclerosis and sporadic
lymphangiomyomatosis.
SO - Am J Respir Crit Care Med 2001 Oct 15;164(8 Pt 1):1537-40
AD - Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia,
Pennsylvania 19111, USA.
In previous work we found loss of heterozygosity (LOH) of the wild-type
TSC2 allele in the abnormal pulmonary smooth muscle cells and renal
angiomyolipoma cells from patients with sporadic pulmonary
lymphangiomyomatosis (LAM). Here we report TSC2 LOH in microdissected
pulmonary LAM cells from a patient with tuberous sclerosis complex
(TSC), demonstrating for the first time that the two-hit tumor
suppressor gene model applies to the TSC-associated, as well as sporadic
LAM. We also compared the chromosome 16 LOH region between
angiomyolipoma and pulmonary LAM from two patients with sporadic LAM.
Previously we found that these patients had TSC2 mutations and TSC2 LOH
in their angiomyolipomas and pulmonary LAM cells but not in normal lung
or kidney cells. This suggests that pulmonary LAM may result from the
migration of smooth muscle cells from renal angiomyolipomas to the lung.
In this case, one would predict that the angiomyolipoma and LAM cells
would have identical LOH patterns. We found that at each chromosome 16
marker, the results were concordant between angiomyolipoma and LAM. This
is consistent with a model in which pulmonary LAM cells and
angiomyolipoma cells have a common genetic origin.
23
UI - 11781698
AU - Goedbloed MA; Nellist M; Verhaaf B; Reuser AJ; Lindhout D; Sunde L;
TI -
Verhoef S; Halley DJ; van den Ouweland AM
Analysis of TSC2 stop codon variants found in tuberous sclerosis
patients.
SO - Eur J Hum Genet 2001 Nov;9(11):823-8
AD - Department of Clinical Genetics, Erasmus University and Dijkzigt
Academic Hospital, Dr. Molewaterplein 50, 3015 GE Rotterdam, The
Netherlands.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder
caused by mutations to the TSC1 and TSC2 tumour suppressor genes. We
detected two sequence changes involving the TSC2 stop codon and
investigated the effects of these changes on the expression of tuberin,
the TSC2 gene product, and on the binding between tuberin and the TSC1
gene product, hamartin. While elongation of the tuberin open reading
frame by 17 amino acids did not interfere with tuberin-hamartin binding,
a longer extension prevented this interaction. Our data illustrate how
functional protein assays can assist in the verification and
characterisation of disease-causing mutations.
24
UI - 11519851
AU - Kim SK; Wang KC; Cho BK; Jung HW; Lee YJ; Chung YS; Lee JY; Park SH; Kim
TI -
YM; Choe G; Chi JG
Biological behavior and tumorigenesis of subependymal giant cell
astrocytomas.
SO - J Neurooncol 2001 May;52(3):217-25
AD - Department of Neurosurgery, Seoul National University Hospital,
Chongno-gu, Korea.
In spite of the benign nature of subependymal giant cell astrocytomas
(SEGAs), some show massive hemorrhage, rapid growth, and tumor
recurrence. This led us to investigate the biological behavior, cell
dynamics, and tumorigenesis of SEGAs. All patients (4 men and 3 women;
age range, 6-27 years; mean, 13.6 years) had features of tuberous
sclerosis complex and obstructive hydrocephalus. One patient had
intratumoral bleeding. In two patients, sequential neuroimaging showed a
subependymal nodule growing to become a SEGA. All underwent surgical
resection without radiation therapy. One tumor recurred and was treated
surgically. There were no postoperative deaths. The presence of
cytologic atypia, mitoses and vascular proliferation had no implication
in terms of the clinical course. MIB-1 labeling indices were low (mean,
0.9), indicating low proliferative potential. Unexpectedly, bcl-2
staining was sparse and bax staining predominated in majority of cases.
However, the mean value of terminal deoxynucleotidyl
transferase-mediated dUTP-biotin nick end labeling index was low.
Immunohistochemically, tumors were positive for both glial and neuronal
markers. In the majority of our cases, the expression of p53 was low.
Only one tumor was focally positive for tuberin. SEGAs have low
proliferative potential and apoptotic activity, and exhibit features of
mixed glial-neuronal differentiation. In contrast to p53, tuberin is
suggested to be the tumor suppressor in this tumor.
25
UI - 11757096
AU - Hiippala A; Eronen M
TI -
[Cardiac tumors of the newborn--diagnosis already during fetal period]
SO - Duodecim 1998;22(114):2337-41
AD - HYKS Lasten ja nuorten sairaala 00029 HYKS.
26
UI - 11568471
AU - Kumar A; Girimaji SC
TI -
Tuberous sclerosis complex: a Drosophila connection.
SO - J Biosci 2001 Sep;26(3):285-7
AD - Department of Molecular Reproduction, Development and Genetics, Indian
Institute of Science, Bangalore 560 012, India. karun@mrdg.iisc.ernet.in
The above citations and abstracts reflect those newly added to CANCERLIT for the month and topic listed in the title. The citations have been retrieved from CANCERLIT using a predefined search strategy of indexed subject terms. Although the search strategy has been refined as best as possible, citations may appear that are not directly related to the topic, and occasionally relevant references may be omitted.
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